Details of Disease

General Information of Disease (ID: DIS240KZ)

Disease Name Intellectual disability, X-linked 19
Synonyms
MRX19; mental retardation, X-linked 19; intellectual developmental disorder, X-linked 19, X-linked dominant; RPS6KA3 non-syndromic X-linked intellectual disability; intellectual disability, X-linked 19; intellectual disability, X-linked type 19; mental retardation, X-linked type 19; non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3
Definition Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DIS240KZ: Intellectual disability, X-linked 19
Disease Identifiers
MONDO ID
MONDO_0010447
MESH ID
C563141
UMLS CUI
C0796225
OMIM ID
300844
MedGen ID
208676

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RPS6KA3 TTUM2ZR Strong X-linked [1]
RPS6KA3 TTUM2ZR Strong Genetic Variation [2]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AFF2 OTMF1PZW Strong Biomarker [3]
ARX OTBGYH25 Strong Genetic Variation [3]
DLG3 OTH591WK Strong Biomarker [4]
GDI1 OTYM3928 Strong Biomarker [5]
IL1RAPL1 OTW3T4B2 Strong Genetic Variation [3]
PQBP1 OTXCBEAH Strong Biomarker [3]
RPS6KA3 OTYJNNMD Strong X-linked [1]
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⏷ Show the Full List of 7 DOT(s)

References

1 A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet. 1999 May;22(1):13-4. doi: 10.1038/8719.
2 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet. 2006 Dec;70(6):509-15. doi: 10.1111/j.1399-0004.2006.00723.x.
3 Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).Am J Med Genet. 1996 Jul 12;64(1):89-96. doi: 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O.
4 Altered thalamocortical development in the SAP102 knockout model of intellectual disability.Hum Mol Genet. 2016 Sep 15;25(18):4052-4061. doi: 10.1093/hmg/ddw244. Epub 2016 Jul 27.
5 Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1.